Accès gratuit
Numéro
Med Sci (Paris)
Volume 20, Numéro 1, Janvier 2004
Page(s) 61 - 67
Section M/S revues
DOI https://doi.org/10.1051/medsci/200420161
Publié en ligne 15 janvier 2004
  1. Teitelbaum SL. Bone resorption by osteoclasts. Science 2000; 289 : 1504–8.
  2. Tondravi MM, McKercher SR, Anderson K, et al. Osteopetrosis in mice lacking haematopoietic transcription factor PU.1. Nature 1997; 386 : 81–4.
  3. Yoshida H, Hayashi S, Kunisada T, et al. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature 1990; 345 : 442–4.
  4. Dai XM, Ryan GR, Hapel AJ, et al. Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects. Blood 2002; 99 : 111–20.
  5. Grigoriadis AE, Wang ZQ, Cecchini MG, et al. c-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. Science 1994; 266 : 443–8.
  6. Miyamoto T, Ohneda O, Arai F, et al. Bifurcation of osteoclasts and dendritic cells from common progenitors. Blood 2001; 98 : 2544–54.
  7. Simonet WS, Lacey DL, Dunstan CR, et al. Osteoprotegerin : a novel secreted protein involved in the regulation of bone density. Cell 1997; 89 : 309–19.
  8. Kong YY, Yoshida H, Sarosi I, et al. OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature 1999; 397 : 315–23.
  9. Dougall WC, Glaccum M, Charrier K, et al. RANK is essential for osteoclast and lymph node development. Genes Dev 1999; 13 : 2412–24.
  10. Snapper CM, Zelazowski P, Rosas FR, et al. B cells from p50/NF-kappa B knockout mice have selective defects in proliferation, differentiation, germ-line CH transcription, and Ig class switching. J Immunol 1996; 156 : 183–91.
  11. Sha WC, Liou HC, Tuomanen EI, et al. Targeted disruption of the p50 subunit of NF-kappa B leads to multifocal defects in immune responses. Cell 1995; 80 : 321–30.
  12. Franzoso G, Carlson L, Xing L, et al. Requirement for NF-kappaB in osteoclast and B-cell development. Genes Dev 1997; 11 : 3482–96.
  13. Iotsova V, Caamano J, Loy J, et al. Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2. Nat Med 1997; 3 : 1285–9.
  14. Duong LT, Rodan GA. Integrin-mediated signaling in the regulation of osteoclast adhesion and activation. Front Biosci 1998; 3 : d757–68.
  15. Lomaga MA, Yeh WC, Sarosi I, et al. TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev 1999; 13 : 1015–24.
  16. Soriano P, Montgomery C, Geske R, et al. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 1991; 64 : 693–702.
  17. McHugh KP, Hodivala-Dilke K, Zheng MH, et al. Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts. J Clin Invest 2000; 105 : 433–40.
  18. Luchin A, Suchting S, Merson T, et al. Genetic and physical interactions between microphthalmia transcription factor and PU.1 are necessary for osteoclast gene expression and differentiation. J Biol Chem 2001; 276 : 36703–10.
  19. Hodgkinson CA, Moore KJ, Nakayama A, et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 1993; 74 : 395–404.
  20. Chalhoub N, Benachenhou N, Rajapurohitam V, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 2003; 9 : 399–406.
  21. Hayman AR, Jones SJ, Boyde A, et al. Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis. Development 1996; 122 : 3151–62.
  22. Gowen M, Lazner F, Dodds R, et al Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 1999; 14 : 1654–63.
  23. Nishi T, Forgac M. The vacuolar (h+)-ATPases - nature’s most versatile proton pumps. Nat Rev Mol Cell Biol 2002; 3 : 94–103.
  24. Seifert MF, Marks SC Jr. Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse. Am J Anat 1985; 172 : 141–53.
  25. Kornak U, Kasper D, Bosl MR, et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001; 104 : 205–15.
  26. Scimeca JC, Franchi A, Trojani C, et al. The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. Bone 2000; 26 : 207–13.
  27. Li YP, Chen W, Liang Y, et al. Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat Genet 1999; 23 : 447–51.
  28. Kawasaki-Nishi S, Bowers K, Nishi T, et al. The amino-terminal domain of the vacuolar proton-translocating ATPase a subunit controls targeting and in vivo dissociation, and the carboxyl- terminal domain affects coupling of proton transport and ATP hydrolysis. J Biol Chem 2001; 276 : 47411–20.
  29. Nakamura I, Takahashi N, Udagawa N, et al. Lack of vacuolar proton ATPase association with the cytoskeleton in osteoclasts of osteosclerotic (oc/oc) mice. FEBS Lett 1997; 401 : 207–12.
  30. Key L, Ries W. Osteopetrosis. In: Bilezikian J, Raisz L, Rodan G, eds. Principles of bone biology. New York : Academic Press, 2002 : 1217–27.
  31. Kornak U, Schulz A, Friedrich W, et al. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 2000; 9 : 2059–63.
  32. Frattini A, Orchard PJ, Sobacchi C, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000; 25 : 343–6.
  33. Sobacchi C, Frattini A, Orchard P, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10 : 1767–73.
  34. Scimeca JC, Quincey D, Parrinello H, et al. New mutations in the gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. Hum Mutat 2003; 21 : 151–7.
  35. Cleiren E, Benichou O, Van Hul E, et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 2001; 10 : 2861–7.
  36. Frattini A, Pangrazio A, Susani L, et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 2003; 18 : 1740–7.
  37. Gerritsen EJ, Vossen JM, Fasth A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the working party on inborn errors of the European bone marrow transplantation group. J Pediatr 1994; 125 : 896–902
  38. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000; 288 : 669–72.
  39. Hughes AE, Ralston SH, Marken J, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 2000; 24 : 45–8.
  40. Whyte M, Obrecht S, Finnegan P, et al. Osteoprotegerin deficiency and juvenile Paget’s disease. J Exp Med 2002; 347 : 175–84
  41. Gelb BD, Shi GP, Chapman HA, et al. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996; 273 : 1236–8.

Les statistiques affichées correspondent au cumul d'une part des vues des résumés de l'article et d'autre part des vues et téléchargements de l'article plein-texte (PDF, Full-HTML, ePub... selon les formats disponibles) sur la platefome Vision4Press.

Les statistiques sont disponibles avec un délai de 48 à 96 heures et sont mises à jour quotidiennement en semaine.

Le chargement des statistiques peut être long.